Which are the symptoms of Cadasil (Cerebral Autosomal Dominant Arteriopathy With Sub-Cortical Infarcts And Leukoencephalopathy)?

Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small vessel disease primarily characterized by recurrent strokes, migraine with aura, and progressive cognitive decline. Symptoms typically emerge in adulthood, often between the ages of 30 and 50, and manifest as a result of cumulative damage to the brain's white matter.

What are the primary symptoms of CADASIL?

The clinical presentation of CADASIL is highly variable, even among family members. The most frequent symptoms include:

• Migraine with aura: Often the earliest sign, affecting approximately 30-40% of patients.


• Recurrent ischemic strokes: These occur in the absence of traditional vascular risk factors like hypertension or high cholesterol.


• Cognitive impairment: Ranging from subtle executive dysfunction to severe dementia.


• Psychiatric disturbances: Including significant depression, apathy, and mood swings.


• Motor symptoms: Gait disturbances and pseudobulbar palsy may occur in later stages.

How does CADASIL progress over time?

CADASIL is a progressive condition. Initially, patients may experience episodic migraine attacks. As the disease advances, cumulative subcortical infarcts lead to a decline in cognitive speed and memory. While some individuals remain relatively stable for long periods, others may experience a more rapid decline in mobility and cognitive function by their 60s.

Which symptoms most impact daily life?

For the 57 community members on DiseaseMaps, the most significant challenges are often the unpredictable nature of strokes and the "invisible" symptoms like chronic fatigue, depression, and executive dysfunction. These symptoms can severely impact one’s ability to work, drive, or maintain independent daily living.

When should I seek immediate medical attention?

Given the risk of stroke associated with CADASIL, seek emergency care immediately if you experience sudden-onset weakness, numbness, facial drooping, difficulty speaking, or sudden visual disturbances. Because CADASIL patients are at a higher risk for vascular events, any sudden neurological deficit must be treated as a medical emergency.

Next steps

• Consult a neurologist specializing in neurovascular or genetic disorders for a formal diagnosis.


• Join a patient support group, such as the community at DiseaseMaps.org, to connect with others managing CADASIL.


• Maintain strict control of vascular risk factors, such as quitting smoking and managing blood pressure, to potentially mitigate stroke risk.


• Discuss genetic counseling with a specialist to understand the implications for family members.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• Orphanet: Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy (ORPHA:135)


• NIH Genetic and Rare Diseases Information Center (GARD): CADASIL


• OMIM (Online Mendelian Inheritance in Man): #125190 (CADASIL)


• CureCADASIL: Patient resources and clinical research updates